Structural and functional characterization of D109H and R69C mutant versions of human αB-crystallin: the biochemical pathomechanism underlying cataract and myopathy development.

In conclusion, the R69C and D109H mutations displayed a significant damaging effect on the structure and chaperone function of human αB-Cry which could be considered as their biochemical pathomechanisms in development of congenital cataract and myopathy disorders.
PMID: 31678106 [PubMed - as supplied by publisher]

Source: International Journal of Biological Macromolecules - October 29, 2019 Category: Biochemistry Authors: Ghahramani M, Yousefi R, Krivandin A, Muranov K, Kurganov B, Akbar Moosavi-Movahedi A Tags: Int J Biol Macromol Source Type: research